Severe, neonatal-onset OTC deficiency in twin sisters with a de novo balanced reciprocal translocation t(X;5)(p2.1;q11)

American Journal of Medical Genetics

Volumn 132 A, Issue 2, 2005, Pages 185-188

  Zenker, Martin ^a   Wermuth, Bendicht ^b   Trautmann, Udo ^a   Knerr, Ina ^a   Kraus, Cornelia ^a   Rauch, Anita ^a   Reis, André ^a  

^a UNIVERSITY OF ERLANGEN NUREMBERG   (Germany)

^b UNIVERSITY OF BERN   (Switzerland)

Author keywords

Female; OTC deficiency; X autosome translocation; X inactivation

Indexed keywords

ARGININE; ARYLBUTYRIC ACID DERIVATIVE; BENZOIC ACID; CITRULLINE; GLUTAMINE; OROTIC ACID; UREA;

ANAMNESIS; ARTICLE; AUTOSOME; CASE REPORT; CHROMOSOME ANALYSIS; CHROMOSOME INACTIVATION; CYTOGENETICS; DISEASE SEVERITY; DUCHENNE MUSCULAR DYSTROPHY; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GASTROTOMY; GENE; GENE DISRUPTION; HEMODIALYSIS; HUMAN; HUMAN CELL; HUMAN TISSUE; LIVER BIOPSY; MONOZYGOTIC TWINS; OTC DEFICIENCY; OTC GENE; PRIORITY JOURNAL; RECIPROCAL CHROMOSOME TRANSLOCATION; UREA BLOOD LEVEL; X CHROMOSOME; X CHROMOSOME LINKED DISORDER;

AGE OF ONSET; CHILD, PRESCHOOL; CHROMOSOMES, HUMAN, PAIR 5; CHROMOSOMES, HUMAN, X; DISEASES IN TWINS; FEMALE; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INFANT; INFANT, NEWBORN; KARYOTYPING; MODELS, GENETIC; ORNITHINE CARBAMOYLTRANSFERASE; SIBLINGS; TRANSLOCATION, GENETIC; TWINS;

EID: 11844304983     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.30414     Document Type: Article

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